乌鲁木齐市特教学校重度感音神经性聋GJB2和线粒体基因常见突变调查

目的 调查新疆乌鲁木齐市聋哑学校重度感音性耳聋分子流行病学情况。方法 对194例聋哑学生进行临床资料采集，外周静脉血抽取。血样经DNA提取，进行GJB2 235delC突变、线粒体DNA 12SrRNA A1555G突变的检测。结果 194例聋哑学生中，GJB2 235delC纯合突变、235delC杂合突变携带率分别为为5．67％（11／194）、5．67％（11／194），mtDNA A1555G点突变检出率为9．28％（18／194）。GJB2 235delC在汉族、维族、回族聋哑学生中的等位基因频率分别为9．51％（27／284）、6．0％（3／50）、3．13％（1/32）；携带mtDNA A1555G点突变的聋哑学生16人为汉族、1人为维族、1人为回族。结论 新疆三个主要民族聋哑学生群体中GJB2 235delC、A1555G突变检出率均以汉族最高，但三个民族的突变检出率经统计学比较无显著性差异。新疆地区聋哑学生的GJB2 235deIC突变检出率在全国处于较低水平，新疆地区聋哑学生的A1555G突变检出率高。

Molecular epidemiological study of patients with severe-profound sensorineural hearing loss in Wulumuqi,Xinjiang of China

Objective To conduct a molecular epidemiologic survey of severe-profound hearing loss in Wulumuqi,Xinjiang. Methods The medical history of 194 deaf students from Special Education School of Wulumuqi was collected and blood samples were obtained from these students with informed consents. Two fragments of genomic and mitochodrial DNAs were amplified by polymerase chain reaction (PCR). The mtDNA A1555G mutation was identified by the Prev-DAF Testing Kit and the GJB2 235delC mutation was detected by Apa I restriction enzyme digestion method. Results The detection rates of homozygous GJB2 235delC mutation,heterozygous GJB2 235delC mutation and mtDNA A1555G mutation were 5.67% (11/194),5.67%(11/194) and 9.28%(18/194),respectively. The allelic frequency of the GJB2 235delC mutation among Han,Uigur and Hui deaf students was 9.51%(27/284),6.0%(3/50) and 3.13%(1/32),respectively. The mtDNA A1555G mutation was detected in 1 Uigur stutent 16 Han stutents and 1 Hui student,respectively. Conclusion The detection rates of GJB2 235delC and mtDNA A1555G are highest in Han's deaf population among the three major ethnic groups,but there is no statistically significant difference among them. There is a high incidence of mtDNA A1555G in the Wulumuqi deaf population. Totally,20.62% of SNHL in Wulumuqi were suggested to be hereditary hearing loss by genetic screening for these two common deaf mutations.